R14H (p.Arg14His) variant of FAN1 (Fanconi-associated nuclease 1)
R14H (p.Arg14His) in FAN1 (Fanconi-associated nuclease 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R14H (p.Arg14His) variant details
- p.Arg14His
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10075
- ExAC rs763284160
- gnomAD rs763284160
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.20
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available